Genetic Testing: The Good, the Bad and the Ugly....Oh, and the Really Good by Dr. Sharon Orrange/Primary Care Physician: at DailyStrength Doctors and Advisors

Dr. Orrange received her BA in Biology at the University of California, San Diego, and a Masters Degree in Health Sciences at the Johns Hopkins University School of Public Health. She received her MD from the USC Keck School of…

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Assistant Professor of Clinical Medicine, Division of Geriatric, Hospital and General Internal Medicine, Keck School of Medicine, University of Southern California

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Genetic Testing: The Good, the Bad and the Ugly....Oh, and the Really Good

Posted in Acute Lymphocyt... by Dr. Sharon Orrange on Jul 08, 2009

As many on Dailystrength know, recent genetics discoveries are expanding basic science research into the basic mechanism of health and disease. Over the past decade, gene alterations conferring an increased risk for adult onset conditions such as cancer, diabetes, cardiovascular, and other common diseases have been identified. Identification of genetically susceptible people is seen as a way to tailor prevention efforts and thereby improve their effectiveness and provide new strategies for disease management.

Why is this exciting? The hope surrounding genetic discoveries is an assumption that knowing the basic pathophysiology will enable us to better treat and prevent disease. I would caution you though that knowing the molecular or genetic basis of disease has not directly translated into improved outcomes for all conditions...as an example, understanding the mutation in sickle cell anemia has not lead to improved care.

Does identifying genetic risk always improve patient outcome? No, not always, but it can. In patients with inherited breast or ovarian cancer, intensified surveillance, chemoprevention (Tamoxifen), radiation and prophylactic surgery can improve outcome.

What are the downsides? 1) For some diseases we do genetic testing (ALS, Alzheimer's disease, etc) there is a lack of proven effective interventions for those identified to be at increased risk 2) Diagnosis of an increased genetic risk may be of benefit or harm 3) ascertaining genetic risk has implications for the patient's family as well as for the patient.

Where can I get genetic testing? Most cancer Hospitals have genetic counselors on staff you can meet with for pre and post testing counseling. There are also online genetic testing services available and one is offering something exciting to many of us on DS.

What is 23andme? As you can read on their website, 23andMe is a personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools.

What is their current project the "research revolution"? Between July 7, 2009 and Sept 30, 2009 23andme is looking for folks to join and pledge their support for research if they are 1) Patients who have been affected by a disease that is part of their program (list below) 2) Friends and family members of individuals who have been affected by a disease 3) People passionate about disease research.

For more details see https://www.23andme.com/researchrevolution/

Why could this be really good? 23andMe will give a voice to and drive new research for each disease reaching a minimum number of patients to seed the community. 23andme hopes to complete a Genome Wide Association Study for each community that reaches critical mass hoping to advance genetic research into diseases that affect countless people.

What diseases will be part of the initial program?

ALS

Celiac Disease

Epilepsy

Lymphoma and Leukemia

Migraines

Multiple Sclerosis

Psoriasis

Rheumatoid Arthritis

Severe Food Allergies

Testicular Cancer

If you or someone in your family has been affected by these conditions check out the website and see what you think: https://www.23andme.com/researchrevolution/

Disclaimer: As per usual neither I nor anyone on DS have a personal interest in 23andme....I just want to pass along potentially exciting opportunities.

Thoughts?

Dr O.

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CATEGORIES: News

CONDITIONS AND COMMUNITIES: Acute Lymphocytic Leukemia (ALL) • Acute Myelogenous Leukemia (AML) • Alzheimer's Disease • Amyotrophic Lateral Sclerosis (ALS) • Antiphospholipid Syndrome • Arteriosclerosis • Breast Cancer • Caregivers • Celiac Disease • Chronic Lymphocytic Leukemia (CLL) • Chronic Myelogenous Leukemia (CML) • Cystic Fibrosis • Environmental Allergies • Food Allergies • Hodgkin's Lymphoma • Lupus • MCTD • Migraine Headaches • Multiple Sclerosis (MS) • Non-hodgkin's Lymphoma • Ovarian Cancer • Polycystic Ovarian Syndrome (PCOS) • Prostate Cancer • Psoriasis • Pulmonary Fibrosis • Pulmonary Hypertension • Restless Legs Syndrome • Rheumatoid Arthritis • Sarcoidosis • Testicular Cancer

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Another thing to add is chain store plans to start selling genetic test kits. Perhaps some will be fooled into the opportunity to buy a genetic test to find out what their future holds- at a chain store-I think it is comming :(

http://news.yahoo.com/s/nm/us_walgr...

By nnyl1 May 16, 2010

Okay, I think I see. This group doesn't really do genetic testing. They just collect DNA for genetic research at some time in the future. Actually, it makes no sense to me at all. You are paying for what?

By notagaintoo Jul 19, 2009

The Genetics Information Non-Discrimination Act ("GINA") is a federal law that went into effect this year. Here's a good fact sheet on it -

http://www.genome.gov/Pages/PolicyE...

GINA forbids employers and insurance companies from denying employment, promotions or health coverage when genetic tests show someone has a predisposition to cancer or other diseases.

Sorry, but www.23andme.com sounds kind of suspicious to me. I know what goes into genetic testing, and it's not a $99 kind of thing. Check out a well-established lab like Myriad - www.myriad.com

As to why get genetic testing? I can all speak about cancer. Most cancer is curable if caught early, and some is even preventable. The proper screening as a result of genetic testing will save lives.

By notagaintoo Jul 19, 2009

Frankly I would do it in a second, to further research, if not for the potential for discrimination. Its still too new for me, maybe in a couple decades.

By dee33710 Jul 15, 2009

Hi you guys
Remember that Genetic predisposition is a PROTECTED category in most states so that insurance companies/employers CANT discriminate based on that---though my feeling has been that if they do know you are BRCA + for example---they will search for other reasons to deny you. Yes, its a tricky situation for that...
Dr O.

By DrOrrange Jul 14, 2009

One additional thought: Depending on the outcome of Washington's current effort to reform the health care system in the USA, such genetic information could make those who test positive uninsurable.

By Paxton Jul 14, 2009

Throw into this mix the genetic testing available to pregnant women. My husband carries a balanced translocation (which has no affect on him), but passed it on to our 2nd child as an unbalanced translocation, which caused club foot, heart abnormalities (not life threatening), sacral agenesis (lower portion of spine does not form) and definite developmental delays (according to the genetic specialist. Of course they couldn't say to what degree of delays, but put up the option (I should say they pushed, hard) that we get an abortion. We had very little time to decide (I was already 20 weeks) and so I guess you could say that we took the easy way out and buried our 2nd son. We lost our 3rd child at 6 weeks to miscarriage, though we don't know what the cause was (my thoughts, either due to the previous abortion or genetic incompatability with life). We now have 2 healthy children. We don't know if either carries the translocation (balanced) and the hospital refused to do any testing until they are grown up. Then they will have to make their own choices about whether to have it or not. If I had not known our 2nd child had problems, he would still be alive. The genetic docs push too hard to remove less than perfect babies from society by what they call medical terminations (aka abortions). I have been there and I have not been the same since.

By findmydream Jul 13, 2009

But what about the couple here who had their colicky baby tested for acid reflux, and now can't get medical insurance for baby because of the genes?! The child hasn't been alive 2 years yet, and they've paid thousands of dollars out of pocket and in debt to get their child relief.

Be careful about getting tested I guess.

By KweebsLS Jul 13, 2009

I would not want to be genetically tested if Alzheimer's was part of the outcome. My father's side has this disease and his brother is now 97 and doesn't know anything. My father if 90 and has no short-term memory at all and headed down the same path. I have two cousins who were diagnosed - both from the same family and first cousins to me - one was 65 and the other was 64. This is the age they were diagnosed, not when things started. As you can see I don't want to know. I would certainly think about doing something to myself if I was to have a life sentence like my Uncle and father. They are both so healthy - so very healthy - and yet as family members it is a "long goodbye". No thanks to knowing my future. I know there are pills - no thanks.

By suecalifornia Jul 13, 2009

One of my sisters was faced with this dilemma. She had adenocarcinoma in one breast in her early 40s. Our paternal grandmother and one paternal aunt died of breast cancer in their early 40s. My sister had the breast removed, then had reoccurring cancer in the same breast due to breast tissue that wasn't removed with the first surgery about a year later. She ultimately had both breasts removed (modified radical) with F/U chemo. She is now 2 1/2 years out, gone through reconstruction, is doing well, and looks good. I have another sister, age 50, who has not had breast cancer (she also has two daughters).

The issue with my sister that had breast Ca is she has two teenage daughters. I have talked with her at length several times about whether to do genetic tests for both her and her daughters. The question seems to be what would you do differently if the test was positive? If it is neg. would it instill a false sense of security. If you didn't do the genetic test, or if you did, would you not still aggressively test regularly for breast and ovarian cancer? Should they tell potential marriage partners they have a family history of breast cancer and that the have a positive genetic test for same? What about life insurance? Would they deny a claim if you knew you had a positive genetic test and didn't report it? With medicine becoming more socialized, who determines who should get these tests and who will pay for them. There are other tough social issues but you can get my drift.

My sister without breast cancer still faces issues with her daughters.

To what level should genetics be used to manage humans?

Oh, and another thing, don't get a family friend who is a plastic surgeon to do cancer surgery. And yes, guys can get breast cancer too.

By EasyM Jul 11, 2009

You might want to include Marfan Syndrome in the above list.

By Paxton Jul 11, 2009

From how I quickly read the page, we would need to pay $99 to submit a sample of MS DNA?

By nnyl1 Jul 10, 2009

This subject could be destructive or helpful. There are lots of studies regarding of Genome project. This is also related on this subject, well they are completing human being characteristic in each strand of DNA. They probably optimistic in this project that soon will be accomplished. The sort of qualities payday loans can't buy. Some people would pay big unsecured loans to get the original copy of the http://personalmoneystore.com/money...">Rules of Civility and Decent Behavior in Company and Conversation.

By JavierC Jul 10, 2009

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